المؤلفون: Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloísa de Souza Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araújo, Wagner C. S. Magalhães, Regina Célia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/363cefb9d1d14e1f9adc1fe81f04cd3f

المؤلفون: Sandra Louzada, Walid Algady, Eleanor Weyell, Luciana W. Zuccherato, Paulina Brajer, Faisal Almalki, Marilia O. Scliar, Michel S. Naslavsky, Guilherme L. Yamamoto, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz, Fengtang Yang, Edward J. Hollox

المصدر: BMC Genomics, Vol 21, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: Structural variation, Copy number variation, Inversion, Immune response, Glycophorin, GYPA, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12864-020-06849-8; https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/1c423cd7e635473998fa17d0d13158d0

المؤلفون: Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L. Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M. Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B. Casella, Marcela C. Machado-Costa, Carina Wallgren-Pettersson, Nigel G. Laing, Vincenzo Nigro, Mariz Vainzof

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11995

مصطلحات موضوعية: nemaline myopathy, nebulin, acta1, congenital myopathy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms231911995

الاتاحة: https://doi.org/10.3390/ijms231911995

المؤلفون: Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloísa de Souza Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araújo, Wagner C. S. Magalhães, Regina Célia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-022-29575-z; https://doaj.org/toc/2041-1723; https://doaj.org/article/ff914ecb35074c19bb66b71e9811e0de

الاتاحة: https://doi.org/10.1038/s41467-022-29575-z
https://doaj.org/article/ff914ecb35074c19bb66b71e9811e0de

المؤلفون: Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A. Zanardo, Alexandre T. Dias, Amom M. Nascimento, Thais V. M. M. Costa, Alberto J. da S. Duarte, Luiz L. Coutinho, Chong A. Kim, Leslie D. Kulikowski

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)

مصطلحات موضوعية: BLM gene, Transcriptome, Bloom's syndrome, Immunology, RNA‐Seq, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/35c3a715a56746a0b7510a3254638fb4

المؤلفون: Carolina Malcher, Guilherme L. Yamamoto, Philip Burnham, Suzana A.M. Ezquina, Naila C.V. Lourenço, Sahilla Balkassmi, David S. Marco Antonio, Gabriella S.P. Hsia, Thomaz Gollop, Rita C. Pavanello, Marco Antonio Lopes, Egbert Bakker, Mayana Zatz, Débora Bertola, Iwijn De Vlaminck, Maria Rita Passos-Bueno

المصدر: Genetics and Molecular Biology, Vol 41, Iss 3, Pp 545-554 (2018)

مصطلحات موضوعية: Cell-free DNA, next-generation sequencing, trisomy, noninvasive prenatal test, fetal fraction, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400545&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/0f1c794730e7424198ddd6bca1edfa34

المؤلفون: Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

المصدر: Disease Models & Mechanisms, Vol 13, Iss 2 (2020)

مصطلحات موضوعية: xmea, autophagy, muscle, myogenesis, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/13/2/dmm041244; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/b0cb6d4e3d1a46c39a87d324c172427c

المؤلفون: Taccyanna M. Ali, Bianca D. W. Linnenkamp, Guilherme L. Yamamoto, Rachel S. Honjo, Hamilton Cabral de Menezes Filho, Chong Ae Kim, Débora R. Bertola

المصدر: American Journal of Medical Genetics Part A. 188:1545-1549

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1341abc479d310c30ad08d5810615297
https://doi.org/10.1002/ajmg.a.62651

المؤلفون: José RM Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola

المصدر: Genetics and Molecular Biology, Iss 0 (2018)

مصطلحات موضوعية: PIGL, CHIME syndrome, GPI biosynthesis, large deletion, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018005002106&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/10f7aede446d4de8be044f74700c8d99

المؤلفون: Vitor G.L. Dantas, Karina Lezirovitz, Guilherme L. Yamamoto, Carolina Fischinger Moura de Souza, Simone Gomes Ferreira, Regina C. Mingroni-Netto

المصدر: Genetics and Molecular Biology, Vol 37, Iss 4, Pp 616-621 (2014)

مصطلحات موضوعية: DFNA17, MYH9 gene, Hearing loss, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500002&lng=en&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/c364bfd91c294499bab93aaae51f8e5e

المؤلفون: Eduardo Tarazona-Santos, Heinner Guio, Jaqueline Y. T. Wang, Yeda Aparecida de Oliveira Duarte, Marilia O. Scliar, Michel S Naslavsky, Guilherme L. Yamamoto, Diogo Meyer, Maria Rita Passos-Bueno, Mayana Zatz, Kelly Nunes

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Prioritization, Population, Biology, Genetics, Humans, Exome, underrepresented populations, Allele, education, Mendelian disorders, Genetics (clinical), Loss function, Exome sequencing, Aged, Whole genome sequencing, education.field_of_study, Genetic Variation, High-Throughput Nucleotide Sequencing, Genomics, pathogenic assertions, whole-genome sequencing, NEOPLASIAS, Cohort, admixture, pLOF, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::204629e558f46ca022efd906cc130b1b
https://doi.org/10.1002/ajmg.c.31931

المؤلفون: Débora Romeo Bertola, Renata de Almeida Bordim, Chong Ae Kim, Lucas Vieira Lacerda Pires, Ana Cristina Sayuri Tanaka, Rachel Sayuri Honjo, Guilherme L. Yamamoto, Maria Beatriz Rabelo Maciel

المصدر: American Journal of Medical Genetics Part A. 185:3099-3103

مصطلحات موضوعية: business.industry, Hypertrophic cardiomyopathy, Cancer, medicine.disease, Bioinformatics, Phenotype, Germline, medicine.anatomical_structure, Ventricle, Genetics, medicine, Noonan syndrome, Missense mutation, business, MRAS, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::22dc8b1d62cedabbc706e45f52005014
https://doi.org/10.1002/ajmg.a.62376

المؤلفون: Guilherme L. Yamamoto, Carlos Lima, Marcella Pedroso Peternelli Srougé, Rafael Leite Pacheco, Alice Lopes Santos, Tamiris Uracs de Sales Graça, Rachel Riera, Rodrigo Wilson de Souza

المصدر: BMJ Innovations

مصطلحات موضوعية: general practice, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Primary health care, COVID-19, General Medicine, primary healthcare, Geography, Low income community, Environmental health, General practice, Early-Stage Innovation Report

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b7b23ca4f3648952fefc7ceb8d72c8
https://doi.org/10.1136/bmjinnov-2020-000619

المؤلفون: Meddly L. Santolalla, Fernanda S G Kehdy, Thiago P. Leal, Michel S Naslavsky, Meredith Yeager, Moara Machado, Eduardo Tarazona-Santos, Shane A. Norris, Hanaisa P Sant'Anna, Francisco Pereira Lobo, Victor Borda, Lucas Michelin, Alexandre C. Pereira, Sam M. Mbulaiteye, Robert H. Gilman, Guilherme L. Yamamoto, Edward D. Yeboah, Marcelo R. Luizon, Matthew E. B. Hansen, Sérgio Viana Peixoto, Camila Zolini, Nathalia M. Araujo, Julie Dutil, Timothy D O Connor, Isabela Alvim, Mateus H. Gouveia, Maria Rita Passos-Bueno, Ricardo Lyra, Marilia O. Scliar, Michèle Ramsay, Gilderlanio S. Araújo, Yeda Aparecida de Oliveira Duarte, Heinner Guio, Mayana Zatz, Maria Fernanda Lima-Costa, Wagner C. S. Magalhães, Sarah A. Tishkoff, Ananyo Choudhury, Bernardo L. Horta, Maíra R. Rodrigues, James E. Mensah, Mauricio Lima Barreto, Ann W. Hsing

المصدر: Int J Obes (Lond)

مصطلحات موضوعية: Male, purl.org/pe-repo/ocde/ford#3.03.04 [https], Endocrinology, Diabetes and Metabolism, Population, Medicine (miscellaneous), Genetic admixture, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Regulatory Sequences, Nucleic Acid, Biology, Polymorphism, Single Nucleotide, Article, Body Mass Index, Young Adult, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Genetics, Humans, 030212 general & internal medicine, Allele, Young adult, Child, education, Alleles, Aged, Aged, 80 and over, education.field_of_study, Nutrition and Dietetics, purl.org/pe-repo/ocde/ford#3.02.18 [https], Chromosome Mapping, Middle Aged, Genetic architecture, Genetics, Population, Phenotype, Risk factors, Child, Preschool, Cohort, Female, Body mass index, Brazil, Demography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25dfe2b8d39d082a17c00a00d97299b2
https://doi.org/10.1038/s41366-021-00761-1

المؤلفون: Mayana Zatz, Oswaldo Keith Okamoto, Meire Aguena, Guilherme L. Yamamoto, Kátia Maria da Rocha, V.N.V.O. Takahashi, Ana Cristina Victorino Krepischi, Suzana A. M. Ezquina, Monica C. Varela, Gabriel Bandeira, Thomaz Rafael Gollop, Monize Lazar, Maria Rita Passos-Bueno

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Adult, 0301 basic medicine, Oncology, medicine.medical_specialty, Genetic counseling, Breast Neoplasms, Context (language use), Ataxia Telangiectasia Mutated Proteins, Germline, Cohort Studies, Genetic Heterogeneity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Surgical oncology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Pharmacology (medical), Radiology, Nuclear Medicine and imaging, Clinical significance, Genetic Testing, Germ-Line Mutation, Aged, BRCA2 Protein, Ovarian Neoplasms, BRCA1 Protein, business.industry, Genetic heterogeneity, General Medicine, Middle Aged, medicine.disease, GENÉTICA, Germ Cells, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Ovarian cancer, business, Brazil, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cedc39cb4b7ee87e32e05b5e53e61a58
https://doi.org/10.1007/s12282-020-01165-1

المؤلفون: Fabíola Y Miasaki, Kelly C Saito, Guilherme L Yamamoto, César L Boguszewski, Gisah A de Carvalho, Edna T Kimura, Peter A Kopp

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: LEUCEMIA, Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7313a6cf8943109cd829de9f5602fcc
https://doi.org/10.1210/jendso/bvac026

المؤلفون: Michel S, Naslavsky, Marilia O, Scliar, Guilherme L, Yamamoto, Jaqueline Yu Ting, Wang, Stepanka, Zverinova, Tatiana, Karp, Kelly, Nunes, José Ricardo Magliocco, Ceroni, Diego Lima, de Carvalho, Carlos Eduardo, da Silva Simões, Daniel, Bozoklian, Ricardo, Nonaka, Nayane, Dos Santos Brito Silva, Andreia, da Silva Souza, Heloísa, de Souza Andrade, Marília Rodrigues Silva, Passos, Camila Ferreira Bannwart, Castro, Celso T, Mendes-Junior, Rafael L V, Mercuri, Thiago L A, Miller, Jose Leonel, Buzzo, Fernanda O, Rego, Nathalia M, Araújo, Wagner C S, Magalhães, Regina Célia, Mingroni-Netto, Victor, Borda, Heinner, Guio, Carlos P, Rojas, Cesar, Sanchez, Omar, Caceres, Michael, Dean, Mauricio L, Barreto, Maria Fernanda, Lima-Costa, Bernardo L, Horta, Eduardo, Tarazona-Santos, Diogo, Meyer, Pedro A F, Galante, Victor, Guryev, Erick C, Castelli, Yeda A O, Duarte, Maria Rita, Passos-Bueno, Mayana, Zatz

المساهمون: Universidade de São Paulo (USP), Hospital Israelita Albert Einstein, Harvard Medical School, Laboratório DASA, University Medical Center Groningen, Universidade Estadual Paulista (UNESP), Hospital Sirio-Libanes, Universidade Federal de Minas Gerais (UFMG), Instituto Mário Penna, Instituto Nacional de Salud, Universidad de Huánuco, National Cancer Institute, Universidade Federal da Bahia (UFBA), Fundação Oswaldo Cruz, Universidade Federal de Pelotas, Universidad Peruana Cayetano Heredia

المصدر: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

مصطلحات موضوعية: Whole Genome Sequencing, Haplotypes, Genome, Human, Humans, Rare variants, Genomics, Metagenomics, Structural variation, Polymorphism, Single Nucleotide, Data publication and archiving, Brazil, Mobile elements, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::eee43a010a6ca6a55a0673ada3ebe2e0
https://hdl.handle.net/20.500.12866/11497

المؤلفون: Elaine Cristina Zachi, Tatiana F. Almeida, Guilherme L. Yamamoto, Gabriele Campos, Mehdi Zarrei, Ada J.S. Chan, Eduarda Morgana da Silva Montenegro, Marilia O. Scliar, Isabela Maya Wahys Silva, Maria Rita Passos-Bueno, Claudia Ismania Samogy Costa, Stephen W. Scherer, Naila Cristina Vilaça Lourenço

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Adult, Male, Proband, Candidate gene, Adolescent, DNA Copy Number Variations, Autism Spectrum Disorder, Population, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, mental disorders, CACNA1H, medicine, Humans, Exome, Genetic Predisposition to Disease, 0501 psychology and cognitive sciences, Copy-number variation, Child, education, Genetics (clinical), Genetics, education.field_of_study, biology, General Neuroscience, MUTAÇÃO GENÉTICA, 05 social sciences, Exons, medicine.disease, Autism spectrum disorder, Child, Preschool, biology.protein, Autism, Female, Neurology (clinical), Chromosome Deletion, Brazil, 030217 neurology & neurosurgery, 050104 developmental & child psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d672c9934d3b4ab754313c0cbcdac61e
https://doi.org/10.1002/aur.2238

المؤلفون: Carla Rosenberg, Débora Romeo Bertola, Maria Rita Passos-Bueno, Lucas Vieira Lacerda Pires, José Ricardo Magliocco Ceroni, Rachel Sayuri Honjo, Luiz Antônio Nunes Oliveira, Chong Ae Kim, Letícia Alves da Rocha, Edgard Novaes França Bisneto, Ana Cristina Victorino Krepischi, Guilherme L. Yamamoto

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: DOENÇAS GENÉTICAS, Male, Microarray, Limb Deformities, Congenital, Consanguinity, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical), Genetic Association Studies, business.industry, TAR syndrome, Infant, Newborn, Dysostosis, High-Throughput Nucleotide Sequencing, Infant, Aplasia, Sequence Analysis, DNA, Syndrome, medicine.disease, Phenotype, Hypoplasia, Pedigree, Limb bones, Child, Preschool, Etiology, Female, business, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91a18a5681a50dfb3f84c0ccb4debb27
https://pubmed.ncbi.nlm.nih.gov/34341987

المؤلفون: Chong Ae Kim, Rachel Sayuri Honjo, Edgard Novaes França Bisneto, Luiz Antônio Nunes Oliveira, Guilherme L. Yamamoto, Letícia Alves da Rocha, Lucas Vieira Lacerda Pires, Ana Cristina Victorino Krepischi, Maria Rita Passos-Bueno, Carla Rosenberg, José Ricardo Magliocco Ceroni, Débora Romeo Bertola

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e41516b6fb7d1286535ff9f3cffac4a0
https://doi.org/10.1111/cge.14041/v2/response1